Detalhe da pesquisa
1.
Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease.
Int J Mol Sci
; 24(2)2023 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36674610
2.
Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones.
Int J Mol Sci
; 23(9)2022 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563496
3.
Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach.
BMC Bioinformatics
; 21(Suppl 10): 348, 2020 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32838733
4.
Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations.
Int J Mol Sci
; 21(2)2020 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31940970
5.
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Int J Mol Sci
; 21(3)2020 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32023956
6.
ß-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG.
Int J Mol Sci
; 20(17)2019 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31454904
7.
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
BMC Bioinformatics
; 19(Suppl 15): 433, 2018 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30497360
8.
E-Learning for Rare Diseases: An Example Using Fabry Disease.
Int J Mol Sci
; 18(10)2017 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28946642
9.
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Int J Mol Sci
; 17(12)2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27916943
10.
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.
PLoS One
; 12(12): e0189629, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261720
11.
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease.
PLoS One
; 11(10): e0165463, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27788225